Cytogenetics Best Practices - Maximizing sensitivity and specificity of CNV detection (arrays & NGS) скачать в хорошем качестве

Cytogenetics Best Practices - Maximizing sensitivity and specificity of CNV detection (arrays & NGS)

http://www.biodiscovery.com Presenter: Benjamin W. Darbro, M.D., Ph.D., Assistant Professor of Pediatrics Director, Shivanand R. Patil Cytogenetics and Molecular Laboratory University of Iowa Description Copy number variation has increasingly been recognized as an important cause of human disease phenotypes. Detection of copy number variants (CNVs) has become a routine clinical practice for patients exhibiting developmental delay and other neurocognitive phenotypes. However, before cause and effect connections can be made, and clinical management altered, copy number variants (CNVs) must be accurately detected and thoroughly annotated by the laboratory performing the testing. This process is essential and required before any CNV can be appropriately interpreted in the setting of a specific disease or phenotype. Here we will present methods that allow clinical and research laboratories to 1) calibrate specific chromosomal microarray data metrics to maximize sensitivity and specificity of CNV detection on a genome-wide scale, 2) leverage local and external databases to create custom annotation tracks and filtering algorithms, and 3) integrated methods (including exome sequencing) for interpretation of CNVs in the setting of specific disease phenotypes. Audience This webinar is geared towards those working in cytogenetics looking for a workflow and best practices for detection and interpretation of copy number variation from microarray and NGS data.